Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene-Reference-Cited by-同舟云学术

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

Published:2002-02-11 Issue:3 Volume:30 Page:321-324
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Suzuki Tamio,Li Wei,Zhang Qing,Karim Amna,Novak Edward K.,Sviderskaya Elena V.,Hill Simon P.,Bennett Dorothy C.,Levin Alex V.,Nieuwenhuis H. Karel,Fong Chin-To,Castellan Claudio,Miterski Bianca,Swank Richard T.,Spritz Richard A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng835z.pdf

Reference30 articles.

1. Hermansky, F. & Pudlak, P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow. Blood 14, 162–169 (1959).

2. Spritz, R.A. Multi-organellar disorders of pigmentation: tied up in traffic. Clin. Genet. 55, 309–317 (1999).

3. Spritz, R.A. Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies, and yeast. Trends Genet. 15, 337–340 (1999).

4. Spritz, R.A. Hermansky-Pudlak syndrome and pale ear: melanosome-making for the millennium. Pig. Cell. Res. 13, 15–20 (2000).

5. Witkop, C.J., Almadovar, C., Pineiro, B. & Babcock, M.N. Hermansky-Pudlak syndrome (HPS). An epidemiologic study. Ophth. Paediatr. Genet. 11, 245–250 (1990).

Cited by 166 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. After an initial Hermansky–Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report;Molecular Genetics & Genomic Medicine;2024-07

2. Enhanced MC1R-Signalling and pH Modulation Facilitate Melanogenesis within Late Endosomes of BLOC-1-Deficient Melanocytes;2024

3. Circulating microRNAs predict recurrence and death following venous thromboembolism;Journal of Thrombosis and Haemostasis;2023-10

4. Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes;Genes;2023-01-05

5. Rab32/38-Dependent and -Independent Transport of Tyrosinase to Melanosomes in B16-F1 Melanoma Cells;International Journal of Molecular Sciences;2022-11-16